eP326: Genome sequencing reveals BHLHA9 gene duplication as cause of multi-generational split-hand/foot malformation with long bone deficiency

• DOI: 10.1016/j.gim.2022.01.361
• Publication Date: 2022-03-21T05:31:23Z
• Authors: Raymond Caylor; Timothy Fee; Andrew Lay; Cindy Skinner; David Everman; Elizabeth Blue; Michael Bamshad; Charles Schwartz; Michael Friez; Roger Stevenson
• Keywords: Ectrodactyly; Penetrance; Expressivity; Foot (prosody)